CFH — 1446 ClinVar variants

All ClinVar germline CFH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 831 flagged for review →

66 Pathogenic · 11 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 74 Conflicting · 59 Benign · 36 Benign/Likely benign · 307 Likely benign · 848 Uncertain significance

Full CFH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 831

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CFH p.Ser1191Leu Pathogenic/Likely pathogenic Multiple submitters
CFH-related disorder
CFH p.Arg1182Trp Likely pathogenic Single submitter
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Arg232Gln Likely pathogenic Single submitter
atypical hemolytic-uremic syndrome
CFH p.Ser193Leu Likely pathogenic Single submitter
age related macular degeneration 4

Predictors agree, ClinVar conflicts 29

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CFH p.Ala473Val Conflicting Single submitter
basal laminar drusen
CFH p.Arg127His Conflicting Single submitter
basal laminar drusen
CFH p.Arg166Gln Conflicting Single submitter
age related macular degeneration 4
CFH p.Arg175Pro Conflicting Single submitter
basal laminar drusen
CFH p.Arg257His Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg303Trp Conflicting Single submitter
age related macular degeneration 4
CFH p.Asp693Asn Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Asp90Gly Conflicting Single submitter
age related macular degeneration 4
CFH p.Cys1077Trp Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Cys1109Tyr Conflicting Single submitter
CFH p.Cys448Tyr Conflicting Single submitter
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Cys564Arg Conflicting Single submitter
basal laminar drusen
CFH p.Cys611Tyr Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Cys973Tyr Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Cys984Arg Conflicting Single submitter
age related macular degeneration 4
CFH p.Gln1076Glu Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Gly155Glu Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Gly650Val Conflicting Single submitter
age related macular degeneration 4
CFH p.His402Tyr Conflicting Single submitter
age related macular degeneration 4
CFH p.Ile1179Thr Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Ile15Thr Conflicting Single submitter
Inborn genetic diseases
CFH p.Ile216Thr Conflicting Single submitter
Inborn genetic diseases
CFH p.Leu3Val Conflicting Single submitter
basal laminar drusen
CFH p.Lys6Glu Conflicting Single submitter
age related macular degeneration 4
CFH p.Pro418Ser Conflicting Single submitter
Inborn genetic diseases
CFH p.Thr956Met Conflicting Single submitter
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
CFH p.Thr99Ile Conflicting Single submitter
Inborn genetic diseases
CFH p.Val158Ile Conflicting Single submitter
age related macular degeneration 4
CFH p.Val579Ile Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

CFH p.Cys839Ter Conflicting Single submitter
basal laminar drusen

Predictors lean, ClinVar uncertain 456

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 456

CFH p.Ala1010Thr Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ala1010Val Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ala1027Pro Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ala161Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ala18Ser Uncertain significance Multiple submitters
CFH p.Ala421Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ala73Val Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Ala806Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ala892Val Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Arg1040Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Arg1040Lys Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Arg1072Thr Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg1078Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg1153Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg127Cys Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Arg2Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
CFH p.Arg303Gln Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg341His Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg582His Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Asn22Ser Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Asn556His Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Asn660His Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Asp130Asn Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Asp522Gly Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Asp538His Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Asp855Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Asp947His Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Asp966His Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Cys251Tyr Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Cys691Ser Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Cys839Tyr Uncertain significance Multiple submitters
CFH p.Cys926Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Cys959Tyr Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Gln1143Lys Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Gln293Arg Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Gln400Lys Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Glu167Gln Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Glu242Lys Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Glu541Gly Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Glu541Lys Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Glu721Lys Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Gly107Val Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Gly117Arg Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Gly639Val Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Gly676Glu Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Gly848Arg Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Gly848Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Gly894Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.His1165Tyr Uncertain significance Multiple submitters
kidney disorder
CFH p.His169Arg Uncertain significance Multiple submitters
CFH-related disorder
CFH p.His371Asn Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.His577Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.His735Arg Uncertain significance Multiple submitters
basal laminar drusen
CFH p.His821Tyr Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Ile1033Val Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ile140Val Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ile221Val Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ile453Leu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ile49Val Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ile511Ser Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Ile622Val Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Ile685Thr Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Ile734Phe Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ile760Leu Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Ile868Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ile970Val Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Leu4Pro Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Leu765Phe Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Lys1004Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Lys670Thr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Lys754Glu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Lys82Arg Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Met11Ile Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Met11Thr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Met162Val Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Met432Val Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Met823Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Met823Thr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Phe176Leu Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Phe717Leu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Phe960Ser Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Pro384Arg Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Pro599Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Pro599Thr Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Pro923Ser Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Ser1035Asn Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Ser159Asn Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ser209Leu Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ser411Thr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Ser437Tyr Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ser452Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ser705Phe Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ser884Pro Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ser898Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ser979Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Thr34Arg Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Thr34Ser Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Thr41Ile Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Thr466Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Thr504Arg Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Thr504Met Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Thr645Met Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Thr724Lys Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Thr880Ile Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Thr956Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Thr987Ala Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Tyr118Cys Uncertain significance Multiple submitters
CFH p.Tyr235His Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Tyr243His Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Tyr42Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Tyr951His Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Val1054Ile Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Val111Glu Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Val177Ala Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Val17Gly Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Val17Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Val407Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Val609Ile Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Val835Leu Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Ala1027Thr Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Ala1131Gly Uncertain significance Single submitter
CFH p.Ala1185Pro Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Ala1185Thr Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Ala1229Val Uncertain significance Single submitter
basal laminar drusen
CFH p.Ala348Pro Uncertain significance Single submitter
basal laminar drusen
CFH p.Ala382Glu Uncertain significance Single submitter
basal laminar drusen
CFH p.Ala484Glu Uncertain significance Single submitter
CFH p.Ala484Val Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Ala48Val Uncertain significance Single submitter
CFH p.Ala501Pro Uncertain significance Single submitter
CFH p.Ala5Val Uncertain significance Single submitter
CFH p.Ala943Val Uncertain significance Single submitter
CFH p.Ala969Ser Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Ala971Val Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Arg1074Pro Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1171Gln Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Arg127Pro Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Arg166Gly Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg2Ile Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg341Leu Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg441Thr Uncertain significance Single submitter
CFH p.Arg53Gly Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg53Pro Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg662Gly Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg662Lys Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Arg830Gln Uncertain significance Single submitter
CFH p.Asn1029Asp Uncertain significance Single submitter
CFH p.Asn1095Lys Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Asn1147Ser Uncertain significance Single submitter
CFH p.Asn269Tyr Uncertain significance Single submitter

Predictors split 341

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 341

CFH p.Ala1057Thr Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ala425Val Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg1044Gly Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Arg1074Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Arg1149Gln Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Arg1206His Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Arg1215Leu Likely pathogenic Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Arg166Leu Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Arg257Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Arg567Gly Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Arg582Cys Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Arg830Trp Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Asn1050Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Asn1050Tyr Benign/Likely benign Multiple submitters
basal laminar drusen
CFH p.Asn1056Lys Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Asn396Ser Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Asn638Ser Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Asn75His Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Asn819Ser Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Asp1119Glu Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Asp1220Gly Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Asp165Tyr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Asp20Asn Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Asp20Gly Uncertain significance Multiple submitters
CFH p.Asp619Gly Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Gln1143Glu Benign Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Glu1135Asp Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Glu1145Asp Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Glu189Lys Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Glu201Gly Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Glu395Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Glu635Asp Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Glu656Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Glu677Gly Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Glu936Asp Benign/Likely benign Multiple submitters
complement factor H deficiency
CFH p.Gly1110Ala Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Gly255Glu Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Gly297Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Gly918Glu Uncertain significance Multiple submitters
thrombotic microangiopathy
CFH p.Gly967Glu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.His337Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ile1059Thr Benign/Likely benign Multiple submitters
age related macular degeneration 4
CFH p.Ile1120Phe Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Ile1169Thr Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ile1179Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Ile372Val Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome with I factor anomaly
CFH p.Ile492Val Uncertain significance Multiple submitters
complement factor H deficiency
CFH p.Ile551Thr Benign/Likely benign Multiple submitters
basal laminar drusen
CFH p.Leu24Val Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Leu741Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Leu74Phe Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Leu838Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Leu98Phe Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Lys1005Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Lys666Asn Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Lys754Arg Uncertain significance Multiple submitters
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Pro1051Leu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Pro364Leu Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Pro381Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Pro384Leu Uncertain significance Multiple submitters
CFH p.Pro43Thr Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Pro503Ala Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Pro92Leu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ser1061Pro Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Ser1126Leu Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Ser354Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Thr1017Ile Benign/Likely benign Multiple submitters
basal laminar drusen
CFH p.Thr46Ala Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Thr531Ala Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Thr732Met Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Thr91Ser Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Val1089Met Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Val108Ile Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Val144Met Uncertain significance Multiple submitters
age related macular degeneration 4
CFH p.Val383Ala Uncertain significance Multiple submitters
atypical hemolytic-uremic syndrome
CFH p.Val552Ala Uncertain significance Multiple submitters
CFH p.Val552Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CFH p.Val641Ala Uncertain significance Multiple submitters
basal laminar drusen
CFH p.Val683Met Uncertain significance Multiple submitters
CFH-related disorder
CFH p.Ala110Ser Uncertain significance Single submitter
basal laminar drusen
CFH p.Ala151Thr Uncertain significance Single submitter
basal laminar drusen
CFH p.Ala173Gly Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Ala421Gly Uncertain significance Single submitter
CFH p.Ala473Glu Uncertain significance Single submitter
CFH p.Ala473Gly Uncertain significance Single submitter
CFH p.Ala48Ser Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Ala517Val Uncertain significance Single submitter
CFH p.Ala746Thr Uncertain significance Single submitter
CFH p.Arg1072Gly Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1182Lys Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1182Met Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1182Ser Pathogenic Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1203Trp Conflicting Single submitter
complement factor H deficiency
CFH p.Arg1206Cys Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1210Cys Conflicting Single submitter
semidominant CFH-related disorders
CFH p.Arg1215Gln Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg1215Gly Pathogenic Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg166Trp Conflicting Single submitter
age related macular degeneration 4
CFH p.Arg175Gln Conflicting Single submitter
age related macular degeneration 4
CFH p.Arg175Trp Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Arg285Gly Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Arg444Cys Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Arg53His Conflicting Single submitter
age related macular degeneration 4
CFH p.Arg53Leu Uncertain significance Single submitter
hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH p.Arg778Thr Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg780Ile Uncertain significance Single submitter
basal laminar drusen
CFH p.Arg78Gly Conflicting Single submitter
age related macular degeneration 4
CFH p.Asn1117Ser Uncertain significance Single submitter
basal laminar drusen
CFH p.Asn1140Tyr Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Asn1154Thr Uncertain significance Single submitter
CFH p.Asn274Asp Uncertain significance Single submitter
CFH p.Asn516Lys Conflicting Single submitter
age related macular degeneration 4
CFH p.Asn997Thr Uncertain significance Single submitter
basal laminar drusen
CFH p.Asp1104Asn Uncertain significance Single submitter
CFH p.Asp1104His Uncertain significance Single submitter
CFH p.Asp1119Asn Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Asp132Gly Uncertain significance Single submitter
CFH p.Asp187Val Uncertain significance Single submitter
basal laminar drusen
CFH p.Asp214Tyr Uncertain significance Single submitter
CFH p.Asp248Ala Uncertain significance Single submitter
basal laminar drusen
CFH p.Asp248Gly Uncertain significance Single submitter
CFH p.Asp276Glu Uncertain significance Single submitter
CFH p.Asp497His Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Asp510Tyr Uncertain significance Single submitter
CFH p.Asp90Asn Uncertain significance Single submitter
CFH p.Asp988Tyr Uncertain significance Single submitter
CFH p.Gln1137Leu Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Gln408His Uncertain significance Single submitter
CFH p.Gln476Leu Uncertain significance Single submitter
CFH p.Gln81Pro Conflicting Single submitter
atypical hemolytic-uremic syndrome
CFH p.Gln950His Conflicting Single submitter
basal laminar drusen
CFH p.Glu1012Lys Uncertain significance Single submitter
CFH p.Glu1082Gly Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Glu1135Val Uncertain significance Single submitter
CFH p.Glu1159Lys Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu1172Ala Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu1198Ala Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu1198Asp Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu1198Lys Likely pathogenic Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu1198Val Likely pathogenic Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu123Gly Uncertain significance Single submitter
basal laminar drusen
CFH p.Glu142Gln Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu264Lys Uncertain significance Single submitter
CFH p.Glu289Gly Uncertain significance Single submitter
age related macular degeneration 4
CFH p.Glu433Gln Uncertain significance Single submitter
Inborn genetic diseases
CFH p.Glu471Gly Uncertain significance Single submitter
CFH p.Glu833Lys Uncertain significance Single submitter
basal laminar drusen
CFH p.Glu847Val Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu850Lys Uncertain significance Single submitter
atypical hemolytic-uremic syndrome
CFH p.Glu866Lys Uncertain significance Single submitter
CFH-related disorder

All CFH variants

Pathogenic 66

p.Ala415fs Multiple submitters atypical hemolytic-uremic syndrome
p.Cys569Ter Multiple submitters atypical hemolytic-uremic syndrome
p.Gln586Ter Multiple submitters atypical hemolytic-uremic syndrome
p.Glu625Ter Multiple submitters age related macular degeneration 4
c.245-1G>C Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.2596+1G>C Single submitter atypical hemolytic-uremic syndrome
c.3493+2T>C Single submitter atypical hemolytic-uremic syndrome
c.350+1G>T Single submitter basal laminar drusen
c.351-2A>G Single submitter age related macular degeneration 4
c.790+1G>A Single submitter complement factor H deficiency
p.Ala301fs Single submitter age related macular degeneration 4
p.Ala473_Lys474insArgAlaGlyArgGlyGlySerArgLeuTer Single submitter
p.Arg1182Ser Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg1215Gly Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg885fs Single submitter atypical hemolytic-uremic syndrome
p.Asn607fs Single submitter complement factor H deficiency
p.Asp748fs Single submitter atypical hemolytic-uremic syndrome
p.Cys1032Ter Single submitter atypical hemolytic-uremic syndrome
p.Cys294Ter Single submitter
p.Cys536Ter Single submitter
p.Cys915Ter Single submitter atypical hemolytic-uremic syndrome
p.Gln408Ter Single submitter age related macular degeneration 4
p.Gln40Ter Single submitter atypical hemolytic-uremic syndrome
p.Gln464Ter Single submitter
p.Gln925Ter Single submitter atypical hemolytic-uremic syndrome
p.Glu1003Ter Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Glu1172Ter Single submitter atypical hemolytic-uremic syndrome
p.Glu1195Ter Single submitter atypical hemolytic-uremic syndrome
p.Glu189Ter Single submitter complement factor H deficiency
p.Glu456Ter Single submitter
p.Gly1204Ter Single submitter
p.Gly218Ter Single submitter age related macular degeneration 4
p.Gly600Ter Single submitter
p.His537fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.His651fs Single submitter
p.Ile157fs Single submitter
p.Ile184fs Single submitter basal laminar drusen
p.Leu593Ter Single submitter atypical hemolytic-uremic syndrome
p.Lys1066Ter Single submitter atypical hemolytic-uremic syndrome
p.Lys1162fs Single submitter atypical hemolytic-uremic syndrome
p.Lys204fs Single submitter basal laminar drusen
p.Lys224del Single submitter complement factor H deficiency
p.Lys474fs Single submitter atypical hemolytic-uremic syndrome
p.Lys584Ter Single submitter atypical hemolytic-uremic syndrome
p.Phe723fs Single submitter atypical hemolytic-uremic syndrome
p.Phe960fs Single submitter atypical hemolytic-uremic syndrome
p.Ser451Ter Single submitter
p.Ser714Ter Single submitter atypical hemolytic-uremic syndrome
p.Thr30fs Single submitter atypical hemolytic-uremic syndrome
p.Thr645fs Single submitter atypical hemolytic-uremic syndrome
p.Trp1037Ter Single submitter atypical hemolytic-uremic syndrome
p.Trp198Ter Single submitter age related macular degeneration 4
p.Trp436Ter Single submitter
p.Trp525Ter Single submitter atypical hemolytic-uremic syndrome
p.Tyr1016Ter Single submitter atypical hemolytic-uremic syndrome
p.Tyr1225_Ter1232delinsXaa Single submitter atypical hemolytic-uremic syndrome
p.Tyr243Ter Single submitter
p.Tyr829fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Tyr899Ter Single submitter atypical hemolytic-uremic syndrome
p.Tyr916Ter Single submitter age related macular degeneration 4
p.Gln846fs No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Glu800fs No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Lys236_Cys237insTer No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Lys768fs No assertion criteria inherited retinal dystrophy
p.Pro440fs No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Tyr227fs No assertion criteria inherited retinal dystrophy

Pathogenic/Likely pathogenic 11

c.1520-1G>A Multiple submitters atypical hemolytic-uremic syndrome
c.3493+1G>A Multiple submitters atypical hemolytic-uremic syndrome
c.619+1G>A Multiple submitters basal laminar drusen
p.Arg1215Ter Multiple submitters age related macular degeneration 4
p.Arg232Ter Multiple submitters atypical hemolytic-uremic syndrome
p.Arg53Cys Multiple submitters complement factor H deficiency
p.Gln859Ter Multiple submitters complement factor H deficiency
p.Ile868fs Multiple submitters complement factor H deficiency
p.Ser1191Leu Multiple submitters CFH-related disorder ⚠
p.Trp1183Leu Multiple submitters complement factor H deficiency
p.Tyr957Ter Multiple submitters

Likely pathogenic 45

c.1337-2A>G Multiple submitters age related macular degeneration 4
c.2236+1G>C Multiple submitters complement factor H deficiency
p.Arg1215Leu Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Gln47fs Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Lys1108Ter Multiple submitters complement factor H deficiency
p.Thr1217del Multiple submitters atypical hemolytic-uremic syndrome
p.Trp558Ter Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
c.1520-2A>G Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.2057-1G>A Single submitter
c.2596+1G>A Single submitter
c.58+1G>T Single submitter
c.620-2A>G Single submitter age related macular degeneration 4
p.Ala1057_Tyr1058insTer Single submitter complement factor H deficiency
p.Ala473fs Single submitter complement factor H deficiency
p.Arg1182Trp Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Arg127Leu Single submitter complement factor H deficiency
p.Arg232Gln Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg53Ser Single submitter atypical hemolytic-uremic syndrome
p.Cys1163Trp Single submitter atypical hemolytic-uremic syndrome
p.Cys16fs Single submitter atypical hemolytic-uremic syndrome
p.Cys192Phe Single submitter age related macular degeneration 4
p.Cys210Phe Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Cys385Phe Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Cys870Tyr Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Cys931Leu Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Gln1101Ter Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Gln1139fs Single submitter
p.Glu1198Gly Single submitter
p.Glu1198Lys Single submitter atypical hemolytic-uremic syndrome ⚠
p.Glu1198Val Single submitter atypical hemolytic-uremic syndrome ⚠
p.Glu19Ter Single submitter age related macular degeneration 4
p.Glu643Ter Single submitter
p.His373fs Single submitter
p.Leu992Ter Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Phe1199Leu Single submitter atypical hemolytic-uremic syndrome
p.Pro88Thr Single submitter complement factor H deficiency
p.Ser1158fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Ser193Leu Single submitter age related macular degeneration 4 ⚠
p.Ter1232IleextTer? Single submitter atypical hemolytic-uremic syndrome
p.Trp1183Arg Single submitter atypical hemolytic-uremic syndrome
p.Trp13Ter Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Tyr112Ter Single submitter age related macular degeneration 4
p.Tyr1177Ter Single submitter
p.Leu1181Ser No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Leu4fs No assertion criteria hemolytic uremic syndrome, atypical, susceptibility to, 1

Conflicting classifications of pathogenicity 74

c.245-15T>C Single submitter basal laminar drusen
c.2596+8G>T Single submitter basal laminar drusen
c.2783-3del Single submitter
c.2783-8T>A Single submitter
c.2956+13G>A Single submitter basal laminar drusen
c.2957-7A>G Single submitter atypical hemolytic-uremic syndrome
c.3133+4C>G Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.3134-5T>C Single submitter age related macular degeneration 4
c.3310+12T>C Single submitter age related macular degeneration 4
c.427+14G>C Single submitter basal laminar drusen
c.791-20T>G Single submitter complement factor H deficiency
p.Ala473Val Single submitter basal laminar drusen ⚠
p.Arg1203Trp Single submitter complement factor H deficiency ⚠
p.Arg1206Cys Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg1210Cys Single submitter semidominant CFH-related disorders ⚠
p.Arg1215Gln Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg127His Single submitter basal laminar drusen ⚠
p.Arg166Gln Single submitter age related macular degeneration 4 ⚠
p.Arg166Trp Single submitter age related macular degeneration 4 ⚠
p.Arg175Gln Single submitter age related macular degeneration 4 ⚠
p.Arg175Pro Single submitter basal laminar drusen ⚠
p.Arg257His Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg303Trp Single submitter age related macular degeneration 4 ⚠
p.Arg53His Single submitter age related macular degeneration 4 ⚠
p.Arg662= Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Arg78Gly Single submitter age related macular degeneration 4 ⚠
p.Asn516Lys Single submitter age related macular degeneration 4 ⚠
p.Asp1119Asn Single submitter atypical hemolytic-uremic syndrome ⚠
p.Asp693Asn Single submitter atypical hemolytic-uremic syndrome ⚠
p.Asp90Gly Single submitter age related macular degeneration 4 ⚠
p.Cys1077Trp Single submitter atypical hemolytic-uremic syndrome ⚠
p.Cys1109Tyr Single submitter ⚠
p.Cys448Tyr Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Cys564Arg Single submitter basal laminar drusen ⚠
p.Cys611Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
p.Cys839Ter Single submitter basal laminar drusen ⚠
p.Cys973Tyr Single submitter atypical hemolytic-uremic syndrome ⚠
p.Cys984Arg Single submitter age related macular degeneration 4 ⚠
p.Gln1076Glu Single submitter atypical hemolytic-uremic syndrome ⚠
p.Gln293= Single submitter basal laminar drusen
p.Gln81Pro Single submitter atypical hemolytic-uremic syndrome ⚠
p.Gln950His Single submitter basal laminar drusen ⚠
p.Gly1002Arg Single submitter atypical hemolytic-uremic syndrome ⚠
p.Gly1194Asp Single submitter complement factor H deficiency ⚠
p.Gly155Glu Single submitter atypical hemolytic-uremic syndrome ⚠
p.Gly186= Single submitter basal laminar drusen
p.Gly650Val Single submitter age related macular degeneration 4 ⚠
p.Gly928= Single submitter basal laminar drusen
p.His402Tyr Single submitter age related macular degeneration 4 ⚠
p.Ile1179Thr Single submitter atypical hemolytic-uremic syndrome ⚠
p.Ile15Thr Single submitter Inborn genetic diseases ⚠
p.Ile216Thr Single submitter Inborn genetic diseases ⚠
p.Ile808Met Single submitter basal laminar drusen ⚠
p.Leu1189Phe Single submitter atypical hemolytic-uremic syndrome ⚠
p.Leu3Val Single submitter basal laminar drusen ⚠
p.Leu697Phe Single submitter atypical hemolytic-uremic syndrome ⚠
p.Lys224Asn Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Lys6Glu Single submitter age related macular degeneration 4 ⚠
p.Pro1052= Single submitter basal laminar drusen
p.Pro258Leu Single submitter age related macular degeneration 4 ⚠
p.Pro418Ser Single submitter Inborn genetic diseases ⚠
p.Pro982Ser Single submitter basal laminar drusen ⚠
p.Ser58Ala Single submitter basal laminar drusen ⚠
p.Ser884Tyr Single submitter age related macular degeneration 4 ⚠
p.Thr1015= Single submitter kidney disorder
p.Thr1097= Single submitter basal laminar drusen
p.Thr732= Single submitter basal laminar drusen
p.Thr95= Single submitter age related macular degeneration 4
p.Thr956Met Single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II ⚠
p.Thr99Ile Single submitter Inborn genetic diseases ⚠
p.Val1197Ala Single submitter age related macular degeneration 4 ⚠
p.Val158Ile Single submitter age related macular degeneration 4 ⚠
p.Val579Ala Single submitter age related macular degeneration 4 ⚠
p.Val579Ile Single submitter Inborn genetic diseases ⚠

Benign 59

c.1159+161G>A Multiple submitters
c.1160-15T>C Multiple submitters basal laminar drusen
c.1519+97A>G Multiple submitters
c.1520-148A>G Multiple submitters
c.1520-149C>T Multiple submitters
c.1520-98G>T Multiple submitters basal laminar drusen
c.2414-28C>A Multiple submitters basal laminar drusen
c.2414-68T>G Multiple submitters
c.245-10_245-9dup Multiple submitters atypical hemolytic-uremic syndrome
c.2596+64C>T Multiple submitters
c.2956+235C>T Multiple submitters
c.2957-215T>G Multiple submitters
c.2957-88A>G Multiple submitters
c.2957-89T>C Multiple submitters age related macular degeneration 4
c.3310+144C>T Multiple submitters basal laminar drusen
c.59-36C>T Multiple submitters age related macular degeneration 4
c.620-140C>T Multiple submitters
c.965-53G>T Multiple submitters basal laminar drusen
c.-195T>C Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
c.*178T>A Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
c.*98C>T Multiple submitters age related macular degeneration 4
p.Ala307= Multiple submitters age related macular degeneration 4
p.Ala473= Multiple submitters atypical hemolytic-uremic syndrome
p.Gln1143Glu Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Gln476= Multiple submitters age related macular degeneration 4
p.Gln672= Multiple submitters age related macular degeneration 4
p.Ser159= Multiple submitters age related macular degeneration 4
c.1336+2136G>C Single submitter basal laminar drusen
c.1336+2322TTCT[2] Single submitter basal laminar drusen
c.1336+892A>G Single submitter basal laminar drusen
c.1337-2051C>T Single submitter basal laminar drusen
c.1337-3410A>C Single submitter basal laminar drusen
c.1337-8595C>T Single submitter kidney disorder
c.1519+168A>G Single submitter basal laminar drusen
c.1519+23A>G Single submitter
c.1520-10dup Single submitter
c.1696+2019G>A Single submitter basal laminar drusen
c.2237-188C>T Single submitter
c.2237-543G>A Single submitter basal laminar drusen
c.2237-601G>T Single submitter basal laminar drusen
c.2414-3144C>T Single submitter basal laminar drusen
c.245-13_245-12insCT Single submitter
c.3310+113A>G Single submitter
c.3311-59del Single submitter basal laminar drusen
c.3493+174C>T Single submitter
c.3494-116T>C Single submitter
c.3494-125T>C Single submitter
c.3494-134C>T Single submitter
c.350+175C>A Single submitter basal laminar drusen
c.350+88T>C Single submitter basal laminar drusen
c.427+116del Single submitter basal laminar drusen
c.427+57_427+58insT Single submitter basal laminar drusen
c.428-430T>G Single submitter basal laminar drusen
c.58+150T>C Single submitter
c.58+204T>A Single submitter
c.58+22_58+23del Single submitter
c.964+25C>T Single submitter basal laminar drusen
c.965-18T>A Single submitter
p.Val686= Single submitter

Benign/Likely benign 36

c.1159+19T>G Multiple submitters basal laminar drusen
c.1160-31TTTA[2] Multiple submitters age related macular degeneration 4
c.2236+8T>A Multiple submitters age related macular degeneration 4
c.245-11_245-9dup Multiple submitters atypical hemolytic-uremic syndrome
c.245-7G>A Multiple submitters complement factor H deficiency
c.245-9del Multiple submitters basal laminar drusen
c.245-9dup Multiple submitters complement factor H deficiency
c.2783-3dup Multiple submitters atypical hemolytic-uremic syndrome
c.3133+8G>T Multiple submitters age related macular degeneration 4
c.350+15C>T Multiple submitters basal laminar drusen
c.350+9T>C Multiple submitters basal laminar drusen
c.428-14T>C Multiple submitters basal laminar drusen
c.-124G>T Multiple submitters basal laminar drusen
p.Ala425= Multiple submitters
p.Asn1034= Multiple submitters basal laminar drusen
p.Asn1050= Multiple submitters basal laminar drusen
p.Asn1050Tyr Multiple submitters basal laminar drusen ⚠
p.Asn269= Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Cys569= Multiple submitters age related macular degeneration 4
p.Glu936Asp Multiple submitters complement factor H deficiency ⚠
p.Gly879= Multiple submitters basal laminar drusen
p.His878= Multiple submitters basal laminar drusen
p.Ile1059Thr Multiple submitters age related macular degeneration 4 ⚠
p.Ile551Thr Multiple submitters basal laminar drusen ⚠
p.Pro982= Multiple submitters atypical hemolytic-uremic syndrome
p.Ser1069= Multiple submitters basal laminar drusen
p.Ser890Ile Multiple submitters age related macular degeneration 4
p.Thr1017Ile Multiple submitters basal laminar drusen ⚠
p.Thr1046= Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
p.Tyr1058His Multiple submitters basal laminar drusen
p.Val1007Leu Multiple submitters atypical hemolytic-uremic syndrome
p.Val1060Leu Multiple submitters CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
p.Val62Ile Multiple submitters complement factor H deficiency
p.Val837Ile Multiple submitters basal laminar drusen
p.Val941Phe Multiple submitters basal laminar drusen
c.-36G>C Single submitter age related macular degeneration 4

Likely benign 307

Showing the top 300 by review status; the full set is in the sitemap.

c.1159+11del Multiple submitters
c.1519+7A>G Multiple submitters
c.2056+16T>C Multiple submitters basal laminar drusen
c.2236+10C>G Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
c.2236+18A>G Multiple submitters complement factor H deficiency
c.245-17T>A Multiple submitters age related macular degeneration 4
c.245-8C>T Multiple submitters age related macular degeneration 4
c.2783-10T>C Multiple submitters
c.2957-15T>C Multiple submitters basal laminar drusen
c.58+19C>G Multiple submitters
c.59-16T>C Multiple submitters complement factor H deficiency
c.964+18C>A Multiple submitters age related macular degeneration 4
c.-79A>G Multiple submitters basal laminar drusen
p.Asp187= Multiple submitters age related macular degeneration 4
p.Asp194= Multiple submitters atypical hemolytic-uremic syndrome
p.Cys611= Multiple submitters
p.Gln807= Multiple submitters
p.Gln809= Multiple submitters age related macular degeneration 4
p.Gly539= Multiple submitters kidney disorder
p.His980= Multiple submitters atypical hemolytic-uremic syndrome
p.Lys236= Multiple submitters
p.Lys283= Multiple submitters age related macular degeneration 4
p.Lys749= Multiple submitters
p.Pro318= Multiple submitters
p.Ser311= Multiple submitters
p.Thr1106= Multiple submitters basal laminar drusen
p.Thr302= Multiple submitters age related macular degeneration 4
p.Thr645= Multiple submitters age related macular degeneration 4
p.Thr956= Multiple submitters basal laminar drusen
p.Tyr106= Multiple submitters age related macular degeneration 4
p.Tyr420= Multiple submitters
p.Tyr916= Multiple submitters
c.1159+12T>G Single submitter
c.1160-10T>C Single submitter
c.1160-11A>G Single submitter
c.1160-18C>T Single submitter
c.1160-19T>A Single submitter
c.1160-5C>T Single submitter
c.1160-8G>A Single submitter
c.1336+14T>C Single submitter
c.1336+19A>G Single submitter
c.1337-14C>T Single submitter
c.1337-15del Single submitter
c.1337-16T>C Single submitter
c.1337-17A>T Single submitter
c.1337-6T>A Single submitter
c.1337-7C>T Single submitter
c.1519+19T>C Single submitter
c.1520-15T>A Single submitter
c.1520-15T>C Single submitter
c.1696+10G>A Single submitter
c.1696+17C>G Single submitter
c.1696+17C>T Single submitter
c.1697-10C>T Single submitter
c.1697-13T>C Single submitter
c.1697-15T>C Single submitter
c.1697-19T>C Single submitter
c.1873+12T>A Single submitter
c.1873+16A>T Single submitter
c.1873+18A>G Single submitter
c.1873+20T>A Single submitter
c.1873+20T>C Single submitter
c.1874-14T>C Single submitter
c.1874-16A>G Single submitter
c.1874-17T>C Single submitter
c.1874-18A>G Single submitter
c.1874-9C>T Single submitter
c.2056+10A>C Single submitter
c.2056+20T>C Single submitter
c.2057-12A>T Single submitter
c.2057-16dup Single submitter
c.2057-5C>T Single submitter
c.2057-6A>G Single submitter
c.2057-8T>G Single submitter
c.2236+10C>A Single submitter
c.2237-52T>C Single submitter basal laminar drusen
c.2413+11A>G Single submitter
c.2414-15T>G Single submitter
c.2414-19T>C Single submitter
c.244+10T>C Single submitter
c.244+16A>G Single submitter
c.244+19_244+28del Single submitter
c.244+19T>C Single submitter
c.245-10_245-9del Single submitter
c.245-12T>A Single submitter
c.2596+11T>C Single submitter
c.2596+19G>T Single submitter
c.2597-13A>T Single submitter
c.2782+10A>G Single submitter
c.2782+11T>C Single submitter
c.2782+18A>C Single submitter
c.2782+19C>T Single submitter
c.2783-5T>C Single submitter
c.2783-9T>C Single submitter
c.2956+12T>C Single submitter
c.2956+13G>T Single submitter
c.2957-18A>G Single submitter
c.2957-20A>G Single submitter
c.3133+19A>C Single submitter
c.3133+7T>C Single submitter
c.3310+970C>G Single submitter
c.3310+9T>C Single submitter
c.3311-11_3311-9del Single submitter
c.3311-13T>C Single submitter
c.3311-14del Single submitter
c.3311-17G>A Single submitter
c.3311-19A>T Single submitter
c.3311-7T>C Single submitter
c.3311-7T>G Single submitter
c.3493+12A>G Single submitter
c.3493+13A>G Single submitter
c.3493+8C>G Single submitter
c.350+11C>T Single submitter
c.350+13T>C Single submitter
c.350+16G>A Single submitter
c.350+16G>T Single submitter
c.351-14T>C Single submitter
c.351-20T>C Single submitter
c.427+12A>G Single submitter
c.427+14G>A Single submitter
c.427+15T>A Single submitter
c.427+19T>C Single submitter
c.427+7A>G Single submitter
c.428-13G>A Single submitter
c.428-44A>T Single submitter age related macular degeneration 4
c.428-4T>A Single submitter
c.58+15G>T Single submitter
c.58+16A>G Single submitter
c.58+19C>T Single submitter
c.58+7_58+10dup Single submitter
c.59-17G>A Single submitter
c.59-18T>C Single submitter
c.59-20T>G Single submitter
c.619+10A>G Single submitter
c.619+9C>A Single submitter
c.619+9C>T Single submitter
c.620-6A>C Single submitter
c.790+17T>A Single submitter
c.790+20C>G Single submitter
c.964+18C>T Single submitter
c.964+9C>T Single submitter
c.965-10T>C Single submitter
c.965-12T>C Single submitter
c.965-17A>T Single submitter
c.965-8_965-7del Single submitter
p.Ala1010= Single submitter
p.Ala151= Single submitter
p.Ala18= Single submitter
p.Ala73= Single submitter
p.Arg1215= Single submitter
p.Arg281= Single submitter
p.Arg303= Single submitter
p.Arg342= Single submitter
p.Arg53= Single submitter
p.Arg567= Single submitter
p.Asn1029= Single submitter
p.Asn217= Single submitter
p.Asn305= Single submitter
p.Asn521= Single submitter
p.Asn543= Single submitter
p.Asn607= Single submitter
p.Asn61= Single submitter
p.Asn640= Single submitter
p.Asn75= Single submitter
p.Asn911= Single submitter
p.Asp1119= Single submitter
p.Asp195Asn Single submitter Inborn genetic diseases
p.Asp268= Single submitter
p.Asp288= Single submitter
p.Asp358= Single submitter
p.Asp413= Single submitter
p.Asp485= Single submitter
p.Asp675= Single submitter
p.Asp693= Single submitter
p.Asp90= Single submitter
p.Cys1032= Single submitter
p.Cys1109= Single submitter
p.Cys1152= Single submitter
p.Cys448= Single submitter
p.Cys553= Single submitter
p.Cys659= Single submitter
p.Cys684= Single submitter
p.Gln1137= Single submitter
p.Gln119= Single submitter
p.Gln234= Single submitter
p.Gln628= Single submitter
p.Gln740= Single submitter
p.Gln816= Single submitter
p.Gln81Arg Single submitter Inborn genetic diseases
p.Gln888= Single submitter
p.Gln925= Single submitter
p.Gln950= Single submitter
p.Glu1003= Single submitter
p.Glu1135= Single submitter
p.Glu116= Single submitter
p.Glu153= Single submitter
p.Glu23= Single submitter
p.Glu566= Single submitter
p.Glu570= Single submitter
p.Glu625= Single submitter
p.Gly100= Single submitter
p.Gly196= Single submitter
p.Gly419= Single submitter
p.Gly490= Single submitter
p.Gly590= Single submitter
p.Gly605= Single submitter
p.Gly639= Single submitter
p.Gly692= Single submitter
p.Gly967= Single submitter
p.His284= Single submitter
p.His371= Single submitter
p.His373= Single submitter
p.His893= Single submitter
p.Ile157= Single submitter
p.Ile272= Single submitter
p.Ile443= Single submitter
p.Ile453= Single submitter
p.Ile492= Single submitter
p.Ile671= Single submitter
p.Leu120= Single submitter
p.Leu259= Single submitter
p.Leu335= Single submitter
p.Leu469= Single submitter
p.Leu479= Single submitter
p.Leu593= Single submitter
p.Leu616= Single submitter
p.Leu620= Single submitter
p.Leu637= Single submitter
p.Leu664= Single submitter
p.Leu697= Single submitter
p.Leu704= Single submitter
p.Leu897= Single submitter
p.Lys156= Single submitter
p.Lys200= Single submitter
p.Lys224= Single submitter
p.Lys351= Single submitter
p.Lys527= Single submitter
p.Lys646= Single submitter
p.Lys79= Single submitter
p.Phe197= Single submitter
p.Pro1112= Single submitter
p.Pro1124= Single submitter
p.Pro152= Single submitter
p.Pro258= Single submitter
p.Pro316= Single submitter
p.Pro364= Single submitter
p.Pro423= Single submitter
p.Pro572= Single submitter
p.Pro599= Single submitter
p.Pro606= Single submitter
p.Pro618= Single submitter
p.Pro632= Single submitter
p.Pro668= Single submitter
p.Pro695= Single submitter
p.Pro742= Single submitter
p.Pro813= Single submitter
p.Pro869= Single submitter
p.Pro92= Single submitter
p.Ser1028= Single submitter
p.Ser1069Pro Single submitter Inborn genetic diseases
p.Ser160= Single submitter
p.Ser209= Single submitter
p.Ser212= Single submitter
p.Ser266= Single submitter
p.Ser365= Single submitter
p.Ser608= Single submitter
p.Ser722= Single submitter
p.Ser730= Single submitter
p.Thr1020= Single submitter
p.Thr1151= Single submitter
p.Thr135= Single submitter
p.Thr291= Single submitter
p.Thr41= Single submitter
p.Thr428= Single submitter
p.Thr439= Single submitter
p.Thr46= Single submitter
p.Thr466= Single submitter
p.Thr531= Single submitter
p.Thr544= Single submitter
p.Thr547= Single submitter basal laminar drusen
p.Thr679= Single submitter
p.Thr690= Single submitter
p.Thr824= Single submitter
p.Thr825= Single submitter
p.Thr895= Single submitter
p.Thr91= Single submitter
p.Thr913= Single submitter
p.Tyr112= Single submitter
p.Tyr118= Single submitter
p.Tyr235= Single submitter
p.Tyr299= Single submitter basal laminar drusen
p.Tyr481= Single submitter
p.Tyr50= Single submitter
p.Tyr649= Single submitter
p.Tyr711= Single submitter
p.Tyr899= Single submitter
p.Val111= Single submitter
p.Val174= Single submitter
p.Val177= Single submitter
p.Val215= Single submitter

Uncertain significance 848

Showing the top 300 by review status; the full set is in the sitemap.

c.1160-3T>C Multiple submitters atypical hemolytic-uremic syndrome
c.1697-3A>C Multiple submitters complement factor H deficiency
c.3134-7T>C Multiple submitters age related macular degeneration 4
c.58+5G>T Multiple submitters
c.*14G>A Multiple submitters basal laminar drusen
p.Ala1010Thr Multiple submitters basal laminar drusen ⚠
p.Ala1010Val Multiple submitters age related macular degeneration 4 ⚠
p.Ala1027Pro Multiple submitters basal laminar drusen ⚠
p.Ala1057Thr Multiple submitters age related macular degeneration 4 ⚠
p.Ala161Ser Multiple submitters age related macular degeneration 4 ⚠
p.Ala18Ser Multiple submitters ⚠
p.Ala421Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala425Val Multiple submitters age related macular degeneration 4 ⚠
p.Ala73Val Multiple submitters complement factor H deficiency ⚠
p.Ala806Ser Multiple submitters age related macular degeneration 4 ⚠
p.Ala892Val Multiple submitters complement factor H deficiency ⚠
p.Arg1040Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1040Lys Multiple submitters basal laminar drusen ⚠
p.Arg1044Gly Multiple submitters complement factor H deficiency ⚠
p.Arg1072Thr Multiple submitters age related macular degeneration 4 ⚠
p.Arg1074Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1078Ser Multiple submitters age related macular degeneration 4 ⚠
p.Arg1149Gln Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Arg1153Ser Multiple submitters age related macular degeneration 4 ⚠
p.Arg1206His Multiple submitters age related macular degeneration 4 ⚠
p.Arg127Cys Multiple submitters complement factor H deficiency ⚠
p.Arg166Leu Multiple submitters complement factor H deficiency ⚠
p.Arg257Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2Thr Multiple submitters inherited retinal dystrophy ⚠
p.Arg303Gln Multiple submitters age related macular degeneration 4 ⚠
p.Arg341His Multiple submitters age related macular degeneration 4 ⚠
p.Arg567Gly Multiple submitters basal laminar drusen ⚠
p.Arg582Cys Multiple submitters basal laminar drusen ⚠
p.Arg582His Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Arg830Trp Multiple submitters age related macular degeneration 4 ⚠
p.Asn1050Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn1056Lys Multiple submitters age related macular degeneration 4 ⚠
p.Asn22Ser Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Asn396Ser Multiple submitters basal laminar drusen ⚠
p.Asn556His Multiple submitters complement factor H deficiency ⚠
p.Asn638Ser Multiple submitters basal laminar drusen ⚠
p.Asn660His Multiple submitters Inborn genetic diseases ⚠
p.Asn75His Multiple submitters Inborn genetic diseases ⚠
p.Asn819Ser Multiple submitters complement factor H deficiency ⚠
p.Asp1119Glu Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Asp1220Gly Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Asp130Asn Multiple submitters basal laminar drusen ⚠
p.Asp165Tyr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Asp20Asn Multiple submitters complement factor H deficiency ⚠
p.Asp20Gly Multiple submitters ⚠
p.Asp522Gly Multiple submitters basal laminar drusen ⚠
p.Asp538His Multiple submitters basal laminar drusen ⚠
p.Asp619Gly Multiple submitters basal laminar drusen ⚠
p.Asp855Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp947His Multiple submitters Inborn genetic diseases ⚠
p.Asp966His Multiple submitters Inborn genetic diseases ⚠
p.Cys251Tyr Multiple submitters age related macular degeneration 4 ⚠
p.Cys691Ser Multiple submitters complement factor H deficiency ⚠
p.Cys839Tyr Multiple submitters ⚠
p.Cys926Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys959Tyr Multiple submitters complement factor H deficiency ⚠
p.Gln1143Lys Multiple submitters basal laminar drusen ⚠
p.Gln293Arg Multiple submitters age related macular degeneration 4 ⚠
p.Gln400Lys Multiple submitters age related macular degeneration 4 ⚠
p.Glu1135Asp Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Glu1145Asp Multiple submitters basal laminar drusen ⚠
p.Glu167Gln Multiple submitters age related macular degeneration 4 ⚠
p.Glu189Lys Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Glu201Gly Multiple submitters complement factor H deficiency ⚠
p.Glu242Lys Multiple submitters age related macular degeneration 4 ⚠
p.Glu395Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu541Gly Multiple submitters age related macular degeneration 4 ⚠
p.Glu541Lys Multiple submitters basal laminar drusen ⚠
p.Glu635Asp Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Glu656Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu677Gly Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Glu721Lys Multiple submitters complement factor H deficiency ⚠
p.Glu954del Multiple submitters atypical hemolytic-uremic syndrome
p.Gly107Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Gly1110Ala Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Gly117Arg Multiple submitters complement factor H deficiency ⚠
p.Gly255Glu Multiple submitters age related macular degeneration 4 ⚠
p.Gly297Ser Multiple submitters age related macular degeneration 4 ⚠
p.Gly639Val Multiple submitters basal laminar drusen ⚠
p.Gly676Glu Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Gly848Arg Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Gly848Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly894Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly918Glu Multiple submitters thrombotic microangiopathy ⚠
p.Gly967Glu Multiple submitters basal laminar drusen ⚠
p.His1165Tyr Multiple submitters kidney disorder ⚠
p.His169Arg Multiple submitters CFH-related disorder ⚠
p.His337Arg Multiple submitters Inborn genetic diseases ⚠
p.His371Asn Multiple submitters age related macular degeneration 4 ⚠
p.His577Arg Multiple submitters Inborn genetic diseases ⚠
p.His735Arg Multiple submitters basal laminar drusen ⚠
p.His821Tyr Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Ile1033Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1120Phe Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Ile1169Thr Multiple submitters age related macular degeneration 4 ⚠
p.Ile1179Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile140Val Multiple submitters Inborn genetic diseases ⚠
p.Ile221Val Multiple submitters age related macular degeneration 4 ⚠
p.Ile372Val Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly ⚠
p.Ile453Leu Multiple submitters basal laminar drusen ⚠
p.Ile492Val Multiple submitters complement factor H deficiency ⚠
p.Ile49Val Multiple submitters age related macular degeneration 4 ⚠
p.Ile511Ser Multiple submitters complement factor H deficiency ⚠
p.Ile622Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Ile685Thr Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Ile734Phe Multiple submitters age related macular degeneration 4 ⚠
p.Ile760Leu Multiple submitters complement factor H deficiency ⚠
p.Ile868Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile970Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Leu24Val Multiple submitters age related macular degeneration 4 ⚠
p.Leu4Pro Multiple submitters basal laminar drusen ⚠
p.Leu741Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu74Phe Multiple submitters age related macular degeneration 4 ⚠
p.Leu750_Lys751del Multiple submitters age related macular degeneration 4
p.Leu765Phe Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Leu838Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu98Phe Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Lys1004Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys1005Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys666Asn Multiple submitters basal laminar drusen ⚠
p.Lys670Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Lys754Arg Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Lys754Glu Multiple submitters basal laminar drusen ⚠
p.Lys82Arg Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Met11Ile Multiple submitters basal laminar drusen ⚠
p.Met11Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Met162Val Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Met432Val Multiple submitters Inborn genetic diseases ⚠
p.Met823Ile Multiple submitters Inborn genetic diseases ⚠
p.Met823Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Phe176Leu Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Phe717Leu Multiple submitters basal laminar drusen ⚠
p.Phe960Ser Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Pro1051Leu Multiple submitters basal laminar drusen ⚠
p.Pro364Leu Multiple submitters age related macular degeneration 4 ⚠
p.Pro381Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro384Arg Multiple submitters age related macular degeneration 4 ⚠
p.Pro384Leu Multiple submitters ⚠
p.Pro43Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Pro503Ala Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Pro599Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro599Thr Multiple submitters basal laminar drusen ⚠
p.Pro923Ser Multiple submitters complement factor H deficiency ⚠
p.Pro92Leu Multiple submitters basal laminar drusen ⚠
p.Ser1035Asn Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Ser1061Pro Multiple submitters age related macular degeneration 4 ⚠
p.Ser1126Leu Multiple submitters basal laminar drusen ⚠
p.Ser159Asn Multiple submitters basal laminar drusen ⚠
p.Ser209Leu Multiple submitters age related macular degeneration 4 ⚠
p.Ser354Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser411Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Ser437Tyr Multiple submitters age related macular degeneration 4 ⚠
p.Ser452Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser705Phe Multiple submitters age related macular degeneration 4 ⚠
p.Ser884Pro Multiple submitters basal laminar drusen ⚠
p.Ser898Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser979Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr34Arg Multiple submitters basal laminar drusen ⚠
p.Thr34Ser Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Thr41Ile Multiple submitters age related macular degeneration 4 ⚠
p.Thr466Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr46Ala Multiple submitters age related macular degeneration 4 ⚠
p.Thr504Arg Multiple submitters complement factor H deficiency ⚠
p.Thr504Met Multiple submitters basal laminar drusen ⚠
p.Thr531Ala Multiple submitters basal laminar drusen ⚠
p.Thr645Met Multiple submitters Inborn genetic diseases ⚠
p.Thr724Lys Multiple submitters age related macular degeneration 4 ⚠
p.Thr732Met Multiple submitters age related macular degeneration 4 ⚠
p.Thr880Ile Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Thr91Ser Multiple submitters age related macular degeneration 4 ⚠
p.Thr956Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr987Ala Multiple submitters basal laminar drusen ⚠
p.Tyr118Cys Multiple submitters ⚠
p.Tyr235His Multiple submitters basal laminar drusen ⚠
p.Tyr243His Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Tyr42Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr711del Multiple submitters atypical hemolytic-uremic syndrome
p.Tyr951His Multiple submitters age related macular degeneration 4 ⚠
p.Val1054Ile Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Val1089Met Multiple submitters basal laminar drusen ⚠
p.Val108Ile Multiple submitters age related macular degeneration 4 ⚠
p.Val111Glu Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Val144Met Multiple submitters age related macular degeneration 4 ⚠
p.Val177Ala Multiple submitters complement factor H deficiency ⚠
p.Val17Gly Multiple submitters basal laminar drusen ⚠
p.Val17Ile Multiple submitters Inborn genetic diseases ⚠
p.Val383Ala Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Val407Ile Multiple submitters Inborn genetic diseases ⚠
p.Val552Ala Multiple submitters ⚠
p.Val552Leu Multiple submitters Inborn genetic diseases ⚠
p.Val609Ile Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Val641Ala Multiple submitters basal laminar drusen ⚠
p.Val683Met Multiple submitters CFH-related disorder ⚠
p.Val835Leu Multiple submitters atypical hemolytic-uremic syndrome ⚠
p.Val942del Multiple submitters CFH-related disorder
c.1159+13C>T Single submitter basal laminar drusen
c.1159+4A>T Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.1160-2_1180dup Single submitter
c.1336+10C>A Single submitter age related macular degeneration 4
c.1336+11012A>G Single submitter atypical hemolytic-uremic syndrome
c.1336+4A>T Single submitter Inborn genetic diseases
c.1337-46G>T Single submitter age related macular degeneration 4
c.1697-17_1697-8del Single submitter basal laminar drusen
c.1874-3T>C Single submitter
c.2056+3A>G Single submitter
c.2056+4A>G Single submitter
c.2237-3T>C Single submitter age related macular degeneration 4
c.2414-10T>C Single submitter
c.2414-30A>C Single submitter basal laminar drusen
c.2414-32A>T Single submitter age related macular degeneration 4
c.244+5G>C Single submitter
c.245-5T>C Single submitter
c.245-8_245-7delinsTTCA Single submitter atypical hemolytic-uremic syndrome
c.2783-13_2783-12insA Single submitter
c.2783-3T>A Single submitter
c.2783-9T>A Single submitter
c.2956+3dup Single submitter
c.2956+4T>C Single submitter
c.2957-5T>C Single submitter
c.3133+4C>A Single submitter
c.3134-5T>A Single submitter basal laminar drusen
c.3134-6A>C Single submitter
c.3311-3T>C Single submitter
c.3493+5G>A Single submitter atypical hemolytic-uremic syndrome
c.3493+5G>T Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.3493+6T>A Single submitter
c.350+4T>G Single submitter
c.350+6T>G Single submitter basal laminar drusen
c.351-142AAACAAG[2] Single submitter basal laminar drusen
c.351-39A>G Single submitter basal laminar drusen
c.351-4dup Single submitter atypical hemolytic-uremic syndrome
c.351-61G>A Single submitter age related macular degeneration 4
c.428-5T>A Single submitter
c.428-8T>G Single submitter
c.58+25T>C Single submitter basal laminar drusen
c.58+6A>C Single submitter
c.58+95T>C Single submitter age related macular degeneration 4
c.59-19_59-18dup Single submitter basal laminar drusen
c.59-34C>T Single submitter age related macular degeneration 4
c.790+4A>G Single submitter
c.791-4T>C Single submitter complement factor H deficiency
c.965-6T>C Single submitter atypical hemolytic-uremic syndrome
c.-175T>C Single submitter basal laminar drusen
c.-19C>T Single submitter
c.-57G>A Single submitter basal laminar drusen
c.-61A>G Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
c.*127G>T Single submitter basal laminar drusen
p.Ala1027Thr Single submitter age related macular degeneration 4 ⚠
p.Ala110Ser Single submitter basal laminar drusen ⚠
p.Ala1131Gly Single submitter ⚠
p.Ala1185Pro Single submitter atypical hemolytic-uremic syndrome ⚠
p.Ala1185Thr Single submitter Inborn genetic diseases ⚠
p.Ala1229Val Single submitter basal laminar drusen ⚠
p.Ala151Thr Single submitter basal laminar drusen ⚠
p.Ala173Gly Single submitter age related macular degeneration 4 ⚠
p.Ala348Pro Single submitter basal laminar drusen ⚠
p.Ala382Glu Single submitter basal laminar drusen ⚠
p.Ala421Gly Single submitter ⚠
p.Ala473Glu Single submitter ⚠
p.Ala473Gly Single submitter ⚠
p.Ala484Glu Single submitter ⚠
p.Ala484Val Single submitter age related macular degeneration 4 ⚠
p.Ala48Ser Single submitter atypical hemolytic-uremic syndrome ⚠
p.Ala48Val Single submitter ⚠
p.Ala501Pro Single submitter ⚠
p.Ala517Val Single submitter ⚠
p.Ala5Val Single submitter ⚠
p.Ala746Thr Single submitter ⚠
p.Ala943Val Single submitter ⚠
p.Ala969Ser Single submitter age related macular degeneration 4 ⚠
p.Ala971Val Single submitter age related macular degeneration 4 ⚠
p.Arg1072Gly Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg1074Pro Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg1171Gln Single submitter age related macular degeneration 4 ⚠
p.Arg1182Lys Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg1182Met Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg127Pro Single submitter age related macular degeneration 4 ⚠
p.Arg166Gly Single submitter basal laminar drusen ⚠
p.Arg175Trp Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg285Gly Single submitter Inborn genetic diseases ⚠
p.Arg2Ile Single submitter basal laminar drusen ⚠
p.Arg341Leu Single submitter basal laminar drusen ⚠
p.Arg441Thr Single submitter ⚠
p.Arg444Cys Single submitter age related macular degeneration 4 ⚠
p.Arg53Gly Single submitter basal laminar drusen ⚠
p.Arg53Leu Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
p.Arg53Pro Single submitter atypical hemolytic-uremic syndrome ⚠
p.Arg662Gly Single submitter basal laminar drusen ⚠
p.Arg662Lys Single submitter Inborn genetic diseases ⚠
p.Arg778Thr Single submitter basal laminar drusen ⚠
p.Arg780Ile Single submitter basal laminar drusen ⚠
p.Arg830Gln Single submitter ⚠
p.Asn1029Asp Single submitter ⚠
p.Asn1095Lys Single submitter age related macular degeneration 4 ⚠
p.Asn1117Ser Single submitter basal laminar drusen ⚠